• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NHP2 (HGNC:14377) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
NHP2 ribonucleoprotein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
NOLA2
Alias symbols
FLJ20479
%HI
32.86(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.05(Read more about gnomAD pLI score)
LOEUF
1.08(Read more about gnomAD LOEUF score)
Cytoband
5q35.3
Genomic Coordinates
GRCh37/hg19: chr5:177576464-177580886 NCBI Ensembl UCSC
GRCh38/hg38: chr5:178149463-178153885 NCBI Ensembl UCSC
MANE Select Transcript
NM_017838.4 ENST00000274606.8 (Read more about MANE Select)
Function
Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC,... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27493
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
03/04/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • dyskeratosis congenita, autosomal recessive 2 Monarch
HI Evidence Comments:
Variants in NHP2 have been reported in individuals with dyskeratosis congenita (reviewed in OMIM 613987).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)